基因名称(Gene Name)
GATM AGAT
免疫原
Synthesized peptide derived from human GATM AA range: 223-273
特异性
This antibody detects endogenous levels of GATM at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008],
功能
catalytic activity:L-arginine + glycine = L-ornithine + guanidinoacetate.,disease:Defects in GATM are the cause of L-arginine:glycine amidinotransferase deficiency (AGAT deficiency) [MIM:602360]. AGAT deficiency is a defect in creatine metabolism leading to mental retardation.,domain:One chain folds into a compact single domain composed of repeating units, five beta-beta-alpha-beta modules, which surround the central active site.,pathway:Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 1/2.,similarity:Belongs to the amidinotransferase family.,subcellular location:The mitochondrial form is found in the intermembrane space probably attached to the outer side of the inner membrane.,subunit:Homodimer. There is an equilibrium between the monomeric and dimeric forms, shifted towards the side of the monomer.,tissue specificity:Kidney.,
